A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28110



Internal ID11045343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31980130..32048749hg38UCSC Ensembl
Innerchr6:31947907..32016526hg19UCSC Ensembl
Innerchr6:32055886..32124504hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3868620
hg1968620
hg1868619
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16306, esv17565, esv10803, esv16867, esv17264, esv11132
SamplesNA18502, NA18508, NA12414, NA12004, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA15510, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505, NA12006, NA18511
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv28110
Frequency
Sample Size40
Observed Gain10
Observed Loss22
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer